Incidental Mutation 'R6044:Mmp12'
| ID |
483719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp12
|
| Ensembl Gene |
ENSMUSG00000049723 |
| Gene Name |
matrix metallopeptidase 12 |
| Synonyms |
MMP12, Mmel, macrophage elastase |
| MMRRC Submission |
044212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7350050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 184
(T184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
[ENSMUST00000150167]
|
| AlphaFold |
P34960 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005950
AA Change: T184A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: T184A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
30 |
91 |
7.6e-22 |
PFAM |
|
ZnMc
|
109 |
268 |
2.76e-57 |
SMART |
|
low complexity region
|
269 |
284 |
N/A |
INTRINSIC |
|
HX
|
292 |
334 |
1.44e-6 |
SMART |
|
HX
|
336 |
379 |
2.03e-6 |
SMART |
|
HX
|
384 |
431 |
2.29e-14 |
SMART |
|
HX
|
433 |
473 |
2.94e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065079
AA Change: T184A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065291
Gene: ENSMUSG00000049723
AA Change: T184A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
30 |
91 |
6.5e-22 |
PFAM |
|
ZnMc
|
109 |
268 |
1.23e-54 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120655
AA Change: T114A
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
1 |
21 |
9.1e-9 |
PFAM |
|
ZnMc
|
39 |
198 |
2.76e-57 |
SMART |
|
low complexity region
|
199 |
214 |
N/A |
INTRINSIC |
|
HX
|
222 |
264 |
1.44e-6 |
SMART |
|
HX
|
266 |
309 |
2.03e-6 |
SMART |
|
HX
|
314 |
361 |
2.29e-14 |
SMART |
|
HX
|
363 |
403 |
2.94e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127722
|
| SMART Domains |
Protein: ENSMUSP00000120225
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150167
|
| SMART Domains |
Protein: ENSMUSP00000116080
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
1 |
21 |
7.3e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Adamts20 |
A |
T |
15: 94,180,364 (GRCm39) |
Y1764N |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,130,928 (GRCm39) |
D223V |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 75,967,868 (GRCm39) |
V31A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,299,095 (GRCm39) |
H462R |
probably benign |
Het |
| Amt |
A |
T |
9: 108,174,450 (GRCm39) |
T72S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,612 (GRCm39) |
D461E |
probably damaging |
Het |
| Bcan |
C |
A |
3: 87,902,950 (GRCm39) |
C276F |
probably damaging |
Het |
| Crispld2 |
T |
C |
8: 120,737,410 (GRCm39) |
S54P |
possibly damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,933,987 (GRCm39) |
N478I |
probably damaging |
Het |
| Des |
A |
T |
1: 75,340,113 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,473,774 (GRCm39) |
I427F |
probably benign |
Het |
| Eml4 |
T |
G |
17: 83,753,379 (GRCm39) |
L281R |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,839,878 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Fndc11 |
T |
A |
2: 180,863,459 (GRCm39) |
L88Q |
probably damaging |
Het |
| Foxo1 |
A |
G |
3: 52,253,258 (GRCm39) |
M474V |
probably benign |
Het |
| Gap43 |
A |
T |
16: 42,112,550 (GRCm39) |
D70E |
probably benign |
Het |
| Gemin4 |
T |
C |
11: 76,103,760 (GRCm39) |
M334V |
probably benign |
Het |
| Gm973 |
T |
C |
1: 59,667,393 (GRCm39) |
L718P |
probably benign |
Het |
| Gprin3 |
G |
T |
6: 59,330,657 (GRCm39) |
T550N |
possibly damaging |
Het |
| Hddc3 |
T |
A |
7: 79,993,332 (GRCm39) |
V53E |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,298,449 (GRCm39) |
D12E |
probably null |
Het |
| Klri2 |
T |
A |
6: 129,717,247 (GRCm39) |
E45D |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,235,717 (GRCm39) |
V430A |
possibly damaging |
Het |
| Mcm8 |
T |
C |
2: 132,673,600 (GRCm39) |
|
probably null |
Het |
| Morc3 |
T |
C |
16: 93,663,330 (GRCm39) |
V511A |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,925,695 (GRCm39) |
Y397H |
probably damaging |
Het |
| Naa50 |
G |
A |
16: 43,979,890 (GRCm39) |
E93K |
possibly damaging |
Het |
| Or14j2 |
G |
A |
17: 37,885,426 (GRCm39) |
T296M |
probably damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,522 (GRCm39) |
V146A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,516 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,823,761 (GRCm39) |
I8T |
possibly damaging |
Het |
| Or4k40 |
T |
C |
2: 111,250,423 (GRCm39) |
N291S |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,475,438 (GRCm39) |
S576P |
possibly damaging |
Het |
| Poglut2 |
A |
T |
1: 44,153,611 (GRCm39) |
L221* |
probably null |
Het |
| Prss47 |
A |
T |
13: 65,197,120 (GRCm39) |
Y111* |
probably null |
Het |
| Ptprm |
A |
G |
17: 67,000,857 (GRCm39) |
V1100A |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,286,843 (GRCm39) |
P437S |
possibly damaging |
Het |
| Rsph14 |
C |
T |
10: 74,867,102 (GRCm39) |
D15N |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,885,743 (GRCm39) |
V94A |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,358 (GRCm39) |
E362G |
possibly damaging |
Het |
| Sva |
A |
T |
6: 42,017,034 (GRCm39) |
Y47F |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,788,558 (GRCm39) |
|
probably null |
Het |
| Tlcd4 |
A |
T |
3: 121,001,018 (GRCm39) |
I205K |
probably damaging |
Het |
| Tlcd5 |
A |
G |
9: 43,024,903 (GRCm39) |
S18P |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,920,422 (GRCm39) |
Q93* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,656,665 (GRCm39) |
E1184G |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,917,872 (GRCm39) |
I325K |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,208,731 (GRCm39) |
I5L |
probably benign |
Het |
| Wee1 |
C |
T |
7: 109,738,513 (GRCm39) |
T542I |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,726,457 (GRCm39) |
P1129S |
probably damaging |
Het |
| Zfyve16 |
G |
A |
13: 92,659,174 (GRCm39) |
Q246* |
probably null |
Het |
|
| Other mutations in Mmp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Mmp12
|
APN |
9 |
7,358,307 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03047:Mmp12
|
APN |
9 |
7,357,797 (GRCm39) |
splice site |
probably benign |
|
|
IGL03224:Mmp12
|
APN |
9 |
7,350,002 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03247:Mmp12
|
APN |
9 |
7,348,631 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0050:Mmp12
|
UTSW |
9 |
7,350,152 (GRCm39) |
unclassified |
probably benign |
|
|
R0480:Mmp12
|
UTSW |
9 |
7,350,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Mmp12
|
UTSW |
9 |
7,358,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0800:Mmp12
|
UTSW |
9 |
7,357,827 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1114:Mmp12
|
UTSW |
9 |
7,358,289 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1441:Mmp12
|
UTSW |
9 |
7,354,787 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1765:Mmp12
|
UTSW |
9 |
7,354,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Mmp12
|
UTSW |
9 |
7,349,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Mmp12
|
UTSW |
9 |
7,349,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Mmp12
|
UTSW |
9 |
7,358,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:Mmp12
|
UTSW |
9 |
7,357,819 (GRCm39) |
missense |
probably benign |
|
|
R4645:Mmp12
|
UTSW |
9 |
7,347,515 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5210:Mmp12
|
UTSW |
9 |
7,349,729 (GRCm39) |
nonsense |
probably null |
|
|
R5499:Mmp12
|
UTSW |
9 |
7,353,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5774:Mmp12
|
UTSW |
9 |
7,354,823 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5778:Mmp12
|
UTSW |
9 |
7,350,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Mmp12
|
UTSW |
9 |
7,347,501 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5869:Mmp12
|
UTSW |
9 |
7,348,446 (GRCm39) |
intron |
probably benign |
|
|
R6494:Mmp12
|
UTSW |
9 |
7,353,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6651:Mmp12
|
UTSW |
9 |
7,355,345 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7057:Mmp12
|
UTSW |
9 |
7,369,173 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7057:Mmp12
|
UTSW |
9 |
7,357,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Mmp12
|
UTSW |
9 |
7,348,446 (GRCm39) |
intron |
probably benign |
|
|
R9024:Mmp12
|
UTSW |
9 |
7,355,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Mmp12
|
UTSW |
9 |
7,347,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0062:Mmp12
|
UTSW |
9 |
7,353,013 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGTATACAATTTACACATCACCTG -3'
(R):5'- TCTTTGAGATCACGGCGTATC -3'
Sequencing Primer
(F):5'- ACCTGTGTCATTCATCATGCTGTATG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation